Canonical Allele Identifier: CA8934279

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1304709
• ClinVar RCV Id: RCV001764945
• dbSNP Id: rs200748841
• ExAC: 18:31324343 G / A
• gnomAD v2: 18-31324343-G-A
• gnomAD v3: 18-33744379-G-A
• gnomAD v4: 18-33744379-G-A
• COSMIC: COSM1290819
• MyVariant Identifiers: chr18:g.31324343G>A (hg19) ; chr18:g.33744379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744379G>A , CM000680.2:g.33744379G>A	GRCh38
NC_000018.9:g.31324343G>A , CM000680.1:g.31324343G>A	GRCh37
NC_000018.8:g.29578341G>A	NCBI36
NG_055244.1:g.170803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4534G>A	ENSP00000513003.1:p.Val1512Ile
ENST00000269197.12:c.4531G>A MANE Select	ENSP00000269197.4:p.Val1511Ile
ENST00000681521.1:c.4411G>A	ENSP00000506037.1:p.Val1471Ile
ENST00000269197.9:c.4531G>A	ENSP00000269197.4:p.Val1511Ile
NM_030632.1:c.4531G>A	NP_085135.1:p.Val1511Ile
XM_005258356.1:c.4534G>A	XP_005258413.1:p.Val1512Ile
XM_011526205.1:c.4507G>A	XP_011524507.1:p.Val1503Ile
XM_011526206.1:c.4453G>A	XP_011524508.1:p.Val1485Ile
XM_011526207.1:c.4453G>A	XP_011524509.1:p.Val1485Ile
XM_011526208.1:c.4414G>A	XP_011524510.1:p.Val1472Ile
XM_011526209.1:c.4363G>A	XP_011524511.1:p.Val1455Ile
XM_011526210.1:c.4363G>A	XP_011524512.1:p.Val1455Ile
XM_011526211.1:c.4363G>A	XP_011524513.1:p.Val1455Ile
XM_011526212.1:c.4363G>A	XP_011524514.1:p.Val1455Ile
XM_011526213.1:c.4363G>A	XP_011524515.1:p.Val1455Ile
XM_011526214.1:c.4363G>A	XP_011524516.1:p.Val1455Ile
XM_011526215.1:c.1495G>A	XP_011524517.1:p.Val499Ile
NM_030632.2:c.4531G>A	NP_085135.1:p.Val1511Ile
XM_011526205.2:c.4507G>A	XP_011524507.1:p.Val1503Ile
XM_011526206.2:c.4453G>A	XP_011524508.1:p.Val1485Ile
XM_011526213.2:c.4363G>A	XP_011524515.1:p.Val1455Ile
XM_017026012.1:c.4453G>A	XP_016881501.1:p.Val1485Ile
XM_017026013.1:c.4363G>A	XP_016881502.1:p.Val1455Ile
XM_017026014.2:c.4363G>A	XP_016881503.1:p.Val1455Ile
XM_024451269.1:c.4363G>A	XP_024307037.1:p.Val1455Ile
NM_030632.3:c.4531G>A MANE Select	NP_085135.1:p.Val1511Ile